Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.I317_M318insFs

PDHA1

367 papers

RefSeq Summary

The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link...

Pfam Domains

E1_dhaa 66–362UCSCDehydrogenase E1 component

Gene Aliases

HGNC Name

pyruvate dehydrogenase E1 subunit alpha 1

HGNC Alias Symbol

E1alpha

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000284.4
p.I317_M318insFs
c.949_952dup4
Surrounding Variants
1 paper
NM_000284.4
p.I317_K321insFs
c.950_962dup13
1 paper
NM_000284.4
p.P316_K321insFs
c.948_963dup16
4 papers
NM_000284.4
p.P316L
c.947C>T
1 paper
NM_000284.4
p.I317delFs
c.949_950delAT
1 paper
NM_000284.4
p.I317T
c.950T>C
1 paper
NM_000284.4
p.I317_K321delFs
c.951_961del11
1 paper
NM_000284.4
p.P316insFs
c.947dupC
1 paper
NM_000284.4
p.D315G
c.944A>G
1 paper
NM_000284.4
p.M318fs
c.952_953fs
3 papers
NM_000284.4
p.D315N
c.943G>A
1 paper
NM_000284.4
p.M318K
c.953T>A
1 paper
NM_000284.4
p.L319_L320ins0
c.957_959dupTCT
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